BRCA2 c.2419G>A ;(p.V807I)

Variant ID: 13-32910911-G-A

NM_000059.3(BRCA2):c.2419G>A;(p.V807I)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: V807I
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants.

Gynecologic Oncology Reports
Villy, M-C MC; Masliah-Planchon, J J; Melaabi, S S; Trabelsi Grati, O O; Girard, E E; Bataillon, G G; Vincent-Salomon, A A; Le Gall, J J; Golmard, L L; Stoppa-Lyonnet, D D; Bieche, I I; Colas, C C
Publication Date: 2021-08

Variant appearance in text: BRCA2: 2419G>A; Val807Ile
PubMed Link: 34541275
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page


Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 2419G>A; Val807Ile
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page


Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: V807I
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page